Canonical Allele Identifier: CA2579749569

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732703_19732704del , CM000686.2:g.19732703_19732704del	GRCh38
NC_000024.9:g.21894589_21894590del , CM000686.1:g.21894589_21894590del	GRCh37
NC_000024.8:g.20353977_20353978del	NCBI36
NG_032920.1:g.17236_17237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.972_973del MANE Select	ENSP00000322408.4:p.Asp324GlufsTer3
ENST00000317961.8:c.972_973del	ENSP00000322408.4:p.Asp324GlufsTer3
ENST00000382806.6:c.801_802del	ENSP00000372256.2:p.Asp267GlufsTer3
ENST00000440077.5:c.849_850del	ENSP00000398543.1:p.Asp283GlufsTer3
ENST00000447300.1:c.837_838del	ENSP00000416377.1:p.Asp279GlufsTer3
ENST00000541639.5:c.972_973del	ENSP00000444293.1:p.Asp324GlufsTer3
NM_001146705.1:c.972_973del	NP_001140177.1:p.Asp324GlufsTer3
NM_001146706.1:c.801_802del	NP_001140178.1:p.Asp267GlufsTer3
NM_004653.4:c.972_973del	NP_004644.2:p.Asp324GlufsTer3
XM_005262560.1:c.837_838del	XP_005262617.1:p.Asp279GlufsTer3
XM_005262561.1:c.972_973del	XP_005262618.1:p.Asp324GlufsTer3
XM_005262562.2:c.972_973del	XP_005262619.1:p.Asp324GlufsTer3
XM_011531468.1:c.972_973del	XP_011529770.1:p.Asp324GlufsTer3
XR_244571.2:n.1260_1261del
XR_430568.2:n.1260_1261del
XR_938609.1:n.1260_1261del
XR_938610.1:n.1260_1261del
XM_005262560.3:c.837_838del	XP_005262617.1:p.Asp279GlufsTer3
XM_005262561.3:c.972_973del	XP_005262618.1:p.Asp324GlufsTer3
XM_011531468.3:c.972_973del	XP_011529770.1:p.Asp324GlufsTer3
XM_024452495.1:c.-1146_-1145del	XP_024308263.1:n.-1146_-1145del
XR_001756009.2:n.1259_1260del
XR_001756010.2:n.1259_1260del
XR_001756011.2:n.1124_1125del
XR_001756012.2:n.1259_1260del
XR_001756013.2:n.1259_1260del
XR_002958832.1:n.1259_1260del
XR_002958833.1:n.1259_1260del
XR_002958834.1:n.1259_1260del
XR_002958835.1:n.1259_1260del
XR_002958836.1:n.1259_1260del
XR_002958837.1:n.1259_1260del
XR_244571.4:n.1259_1260del
XR_430568.4:n.1259_1260del
NM_001146706.2:c.801_802del	NP_001140178.1:p.Asp267GlufsTer3
NM_004653.5:c.972_973del MANE Select	NP_004644.2:p.Asp324GlufsTer3
NM_001146705.2:c.972_973del	NP_001140177.1:p.Asp324GlufsTer3